نتایج جستجو برای: facioscapulohumeral muscular dystrophy

تعداد نتایج: 52771  

Journal: :AJNR. American journal of neuroradiology 1983
M Jiddane J L Gastaut J F Pellissier J Pouget G Serratrice G Salamon

Seventy-five patients with a variety of muscular dystrophies were studied using computed tomography (CT). At least 11 slices were taken in each patient, from the forearm to the lower leg. Sufficient information was obtained to provide some CT characteristics of several dystrophies, including Duchenne muscular dystrophy, facioscapulohumeral syndrome, limb-girdle muscle myopathies, and myopathic ...

Journal: :Experimental oncology 2013
O Yazici S Aksoy N Ozdemir M A Sendur M Dogan N Zengin

AIM Facioscapulohumeral muscular dystrophy (FSHD) is an autosomally inherited neuromuscular disorder and may be associated with increased cancer risk. PATIENT A 69-year old female admitted to hospital with complaint of left axillary mass who had diagnosis of FSHD in her adulthood period. RESULTS Bilateral breast cancer diagnosis was made and the patient underwent bilateral mastectomy. Follo...

1999
H. Feldmeier Thomas Neff R. Roth J. Schnack

Journal: :Journal of molecular cell biology 2013
Maria Victoria Neguembor Alexandros Xynos Maria Cristina Onorati Roberta Caccia Sergia Bortolanza Cristina Godio Mariaelena Pistoni Davide F Corona Gunnar Schotta Davide Gabellini

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD region gene 1 (FRG1) since its over-expression in mice, Xenopus laevis and Caenorhabditis elegans, leads to muscular dystrophy-like defects, sug...

Journal: :Journal of medical genetics 1995
J R Gilbert M C Speer J Stajich R Clancy K Lewis H Qiu L Yamaoka A Kumar J Vance C Stewart

Journal: :British medical journal 1971
B P Hughes

Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.

Journal: :Journal of medical genetics 1989
G Lucotte S Berriche M Fardeau

Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from three chromosomal regions (16p, prox...

Journal: :Neurology 2022

![Graphic][1]#### Notable in Neurology This Week issue features an article that examines the association between sex, menopause, and white matter hyperintensities; another determines optimal surveillance strategies for unruptured intracranial aneurysm growth. A featured of healthy lifestyles with risk Alzheimer disease related dementias low-income Black White Americans. ### Quantitative M...

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